Red eyes provide a glimpse into a genetic syndrome
What's causing this patient's ocular discomfort?
Tag: Genetics
Midbrain gene therapy ‘beneficial’ in rare genetic disease
The approach has been trialled in seven children with aromatic L-amino acid decarboxylase deficiency.
Will patients act on results of germline genome sequencing?
Australian study reveals what people will do if they find out they have an increased heritable cancer risk.
Pinpointing the rare cause of a painful, swollen knee
Is it a septic spectre or something else?
‘Bubble boy’ disease erased with simple therapy
New study shows the faulty gene that causes ADA-SCID was successfully replaced in 48 out of 50 patients: NEJM.
An unusual cause of cough in a binge drinker
When a patient presents with recurrent pneumonia, doctors must keep an open mind to find the underlying cause.
What caused this boy’s suddenly blurred vision?
Evan is an 11-year-old regular patient of the practice who presents with blurry vision in his left eye.
Tired teen’s fracture uncovers a surprising genetic discovery
A student's ankle fracture triggers rising bilirubin and jaundice, leading to the finding of a genetic double whammy.
Here’s the genetic evidence my team found that challenges Folbigg’s conviction
Some 90 prominent scientists, including Nobel laureates and other leading Australian and international researchers, have called for convicted child murderer Kathleen Folbigg to be pardoned…
Top doctors call for release of woman jailed for killing her four children
Ninety medical experts, including Professor Peter Doherty and Professor Fiona Stanley, say fresh genomic evidence shows Kathleen Folbigg's convict…
